Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy

We present 6 cases to illustrate both clinical and genetic diagnostic challenges in facioscapulohumeral muscular dystrophy and provide examples on how to navigate the different steps of genetic testing.

Source: Neurologic Clinics - July 21, 2020 Category: Neurology Authors: Johanna Hamel, Rabi Tawil Source Type: research